ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) (rs148033154)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507584 SCV000605546 uncertain significance not specified 2017-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000507584 SCV000967568 uncertain significance not specified 2019-02-06 criteria provided, single submitter clinical testing The p.Val4454Asp variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.22% (56/24948) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PP3, BS1_Supporting.
Blueprint Genetics RCV001074764 SCV001240359 likely pathogenic Retinal dystrophy 2019-05-27 criteria provided, single submitter clinical testing

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